Canonical Allele Identifier: CA652346782
Gene: CSMD1 HGNC NCBI

Linked Data

dbSNP Id: rs1426055896
COSMIC: COSN20350378
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.4427492C>T , CM000670.2:g.4427492C>T GRCh38
NC_000008.10:g.4285014C>T , CM000670.1:g.4285014C>T GRCh37
NC_000008.9:g.4272422C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000635120.2:c.303-7427G>A MANE Select ENSP00000489225.1:n.303-7427G>A
ENST00000400186.7:c.303-7427G>A ENSP00000383047.3:n.303-7427G>A
ENST00000520002.5:c.303-7427G>A ENSP00000430733.1:n.303-7427G>A
ENST00000602557.5:c.303-7427G>A ENSP00000473359.1:n.303-7427G>A
ENST00000602723.5:c.303-7427G>A ENSP00000473617.1:n.303-7427G>A
ENST00000635120.1:c.303-7427G>A ENSP00000489225.1:n.303-7427G>A
NM_033225.5:c.303-7427G>A NP_150094.5:n.303-7427G>A
XM_011534752.1:c.303-7427G>A XP_011533054.1:n.303-7427G>A
XM_011534752.2:c.303-7427G>A XP_011533054.1:n.303-7427G>A
XM_017013731.1:c.303-7427G>A XP_016869220.1:n.303-7427G>A
NM_033225.6:c.303-7427G>A MANE Select NP_150094.5:n.303-7427G>A
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